Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome

BACKGROUND AND OBJECTIVES: We report the pathogenic sequence variant m.5789T>C in the anticodon stem of the mitochondrial tRNA for cysteine as a novel cause of neuropathy, ataxia, and retinitis pigmentosa (NARP), which is usually associated with pathogenic variants in the MT-ATP6 gene. METHODS: T...

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Detalles Bibliográficos
Autores principales: Hippen, Marius, Zsurka, Gábor, Peeva, Viktoriya, Machts, Judith, Schwiecker, Kati, Debska-Vielhaber, Grazyna, Wiesner, Rudolf J., Vielhaber, Stefan, Kunz, Wolfram S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
RESEARCH Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8893589/
https://www.ncbi.nlm.nih.gov/pubmed/35252560
http://dx.doi.org/10.1212/NXG.0000000000000660

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